BPGM Gene (Protein Coding)

Bisphosphoglycerate Mutase

GC07P134646
GIFtS:
47
2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase ac... See more...

Aliases for BPGM Gene

Aliases for BPGM Gene

  • Bisphosphoglycerate Mutase 2 3 4 5
  • 2,3-Bisphosphoglycerate Mutase, Erythrocyte 3 4
  • 2,3-Bisphosphoglycerate Synthase 3 4
  • 2,3-Diphosphoglycerate Mutase 3 4
  • BPG-Dependent PGAM 3 4
  • DPGM 3 4
  • Testis Secretory Sperm-Binding Protein Li 202a 3
  • Erythrocyte 2,3-Bisphosphoglycerate Mutase 3
  • 2,3-Bisphosphoglycerate Mutase 2
  • EC 5.4.2.11 4
  • EC 5.4.2.4 4
  • ECYT8 3

External Ids for BPGM Gene

Previous GeneCards Identifiers for BPGM Gene

  • GC07P132674
  • GC07P133733
  • GC07P133747
  • GC07P133788
  • GC07P133982
  • GC07P134331
  • GC07P128633

Summaries for BPGM Gene

Entrez Gene Summary for BPGM Gene

  • 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]

GeneCards Summary for BPGM Gene

BPGM (Bisphosphoglycerate Mutase) is a Protein Coding gene. Diseases associated with BPGM include Erythrocytosis, Familial, 8 and Hemolytic Anemia. Among its related pathways are Metabolism and Glucose metabolism. Gene Ontology (GO) annotations related to this gene include intramolecular transferase activity, phosphotransferases and bisphosphoglycerate 2-phosphatase activity. An important paralog of this gene is PGAM1.

UniProtKB/Swiss-Prot Summary for BPGM Gene

  • Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity.

Additional gene information for BPGM Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BPGM Gene

Genomics for BPGM Gene

GeneHancer (GH) Regulatory Elements for BPGM Gene

Promoters and enhancers for BPGM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BPGM on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BPGM

Top Transcription factor binding sites by QIAGEN in the BPGM gene promoter:
  • AML1a
  • AREB6
  • C/EBPalpha
  • CBF(2)
  • GATA-6
  • HNF-3beta
  • NF-Y
  • NRSF form 1
  • NRSF form 2
  • YY1

Genomic Locations for BPGM Gene

Genomic Locations for BPGM Gene
chr7:134,646,779-134,679,816
(GRCh38/hg38)
Size:
33,038 bases
Orientation:
Plus strand
chr7:134,331,531-134,364,568
(GRCh37/hg19)
Size:
33,038 bases
Orientation:
Plus strand

Genomic View for BPGM Gene

Genes around BPGM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPGM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPGM Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BPGM Gene

Proteins for BPGM Gene

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  • Protein details for BPGM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07738-PMGE_HUMAN
    Recommended name:
    Bisphosphoglycerate mutase
    Protein Accession:
    P07738
    Secondary Accessions:
    • A4D1N9

    Protein attributes for BPGM Gene

    Size:
    259 amino acids
    Molecular mass:
    30005 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for BPGM Gene

neXtProt entry for BPGM Gene

Protein Expression for BPGM Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BPGM Gene

  • Glycation of Lys-159 in diabetic patients inactivates the enzyme.
  • Glycosylation at Lys3, Lys5, Lys18, Lys43, Lys159, and Lys197
  • Ubiquitination at Lys5
  • Modification sites at PhosphoSitePlus

Other Protein References for BPGM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BPGM Gene

Domains & Families for BPGM Gene

Gene Families for BPGM Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for BPGM Gene

Blocks:
  • Phosphoglycerate/bisphosphoglycerate mutase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BPGM Gene

GenScript: Design optimal peptide antigens:
  • Phosphoglycerate mutase (A4D1N9_HUMAN)
  • Phosphoglycerate mutase (C9JH23_HUMAN)
  • BPG-dependent PGAM (PMGE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07738

UniProtKB/Swiss-Prot:

PMGE_HUMAN :
  • Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
Family:
  • Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
genes like me logo Genes that share domains with BPGM: view

Function for BPGM Gene

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Molecular function for BPGM Gene

UniProtKB/Swiss-Prot Function:
Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3-bisphosphoglycerate + H(+); Xref=Rhea:RHEA:17765, ChEBI:CHEBI:15378, ChEBI:CHEBI:57604, ChEBI:CHEBI:58248; EC=5.4.2.4; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate; Xref=Rhea:RHEA:15901, ChEBI:CHEBI:58272, ChEBI:CHEBI:58289; EC=5.4.2.11; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
At alkaline pH BPGM favors the synthase reaction; however, at lower pH the phosphatase reaction is dominant. Inhibited by citrate.
GENATLAS Biochemistry:
2,3-bisphosphoglycerate mutase,glycolysis,energy pathway,Rapoport-Luebering shunt,major regulation of biphosphoglycerate concentration in erythrocyte

Enzyme Numbers (IUBMB) for BPGM Gene

Phenotypes From GWAS Catalog for BPGM Gene

Gene Ontology (GO) - Molecular Function for BPGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004082 bisphosphoglycerate mutase activity IEA --
GO:0004619 phosphoglycerate mutase activity IEA --
GO:0005515 protein binding IPI 28514442
GO:0016787 hydrolase activity IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with BPGM: view
genes like me logo Genes that share phenotypes with BPGM: view

Human Phenotype Ontology for BPGM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPGM

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for BPGM Gene

Localization for BPGM Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BPGM gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BPGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with BPGM: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BPGM Gene

Pathways & Interactions for BPGM Gene

genes like me logo Genes that share pathways with BPGM: view

Pathways by source for BPGM Gene

3 Reactome pathways for BPGM Gene
1 GeneGo (Thomson Reuters) pathway for BPGM Gene
  • Glycolysis and gluconeogenesis (short map)

Gene Ontology (GO) - Biological Process for BPGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process NAS 2542247
GO:0006096 glycolytic process IEA --
GO:0007585 respiratory gaseous exchange TAS 2542247
GO:0048821 erythrocyte development IEA --
GO:0061621 canonical glycolysis TAS --
genes like me logo Genes that share ontologies with BPGM: view

No data available for SIGNOR curated interactions for BPGM Gene

Drugs & Compounds for BPGM Gene

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  1. Drug

(7) Drugs for BPGM Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
2-phospho-D-glyceric acid Experimental Pharma 0
3-Phosphoglyceric acid Experimental Pharma 0

(6) Additional Compounds for BPGM Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2,3-Diphosphoglyceric acid
  • 2,3-bisphospho-D-Glycerate
  • 2,3-Bisphosphoglyceric acid
  • 2,3-BPG
  • 2,3-disphospho-D-Glycerate
  • D-Greenwald ester
 138-81-8
2-Phosphoglyceric acid
  • 3-Hydroxy-2-(phosphonooxy)propanoic acid
  • 3-Hydroxy-2-(phosphonooxy)propanoate
  • 2-Phosphoglycerate
  • 2-(Dihydrogen phosphate)glycerate
  • 2-(Dihydrogen phosphate)glyceric acid
 2553-59-5
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
 1981-49-3
genes like me logo Genes that share compounds with BPGM: view

Transcripts for BPGM Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BPGM Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPGM

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BPGM Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7
SP1: - - -
SP2: - -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for BPGM Gene

GeneLoc Exon Structure for
BPGM

Expression for BPGM Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BPGM Gene

mRNA expression in normal human tissues for BPGM Gene
mRNA expression by GTEx for BPGM GenemRNA expression by BioGPS for BPGM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BPGM Gene

This gene is overexpressed in Whole Blood (x6.7).

Protein differential expression in normal tissues from HIPED for BPGM Gene

This gene is overexpressed in Lavage (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BPGM Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BPGM

SOURCE GeneReport for Unigene cluster for BPGM Gene:

Hs.198365

mRNA Expression by UniProt/SwissProt for BPGM Gene:

P07738-PMGE_HUMAN
Tissue specificity: Expressed in red blood cells. Expressed in non-erythroid cells of the placenta; present in the syncytiotrophoblast layer of the placental villi at the feto-maternal interface (at protein level).

Evidence on tissue expression from TISSUES for BPGM Gene

  • Nervous system(4.3)
  • Heart(4.2)
  • Intestine(4.2)
  • Liver(4.2)
  • Blood(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BPGM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
Regions:
Head and neck:
  • eye
  • head
  • mouth
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
General:
  • blood
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with BPGM: view

No data available for Protein tissue co-expression partners for BPGM Gene

Orthologs for BPGM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BPGM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia BPGM 31 30
  • 99.36 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia -- 31
  • 92 (a)
 OneToMany
BPGM 31 30
  • 89.58 (n)
 OneToMany
dog
(Canis familiaris)
 Mammalia BPGM 31 30
  • 91.15 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia BPGM 31
  • 90 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Bpgm 17 31 30
  • 87.39 (n)
rat
(Rattus norvegicus)
 Mammalia Bpgm 30
  • 85.92 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia BPGM 31
  • 61 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BPGM 31 30
  • 74.65 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia BPGM 31
  • 70 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia bpgm 30
  • 70.98 (n)
Str.1545 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.14486 30
zebrafish
(Danio rerio)
 Actinopterygii bpgm 31 30
  • 66.28 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG7059 31 32
  • 39 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GPM1 31
  • 49 (a)
 OneToMany
GPM3 33
Species where no ortholog for BPGM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BPGM Gene

ENSEMBL:
Gene Tree for BPGM (if available)
TreeFam:
Gene Tree for BPGM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BPGM: view image

Paralogs for BPGM Gene

Paralogs for BPGM Gene

(3) SIMAP similar genes for BPGM Gene using alignment to 2 proteins:

  • PMGE_HUMAN
  • C9JH23_HUMAN
genes like me logo Genes that share paralogs with BPGM: view

Variants for BPGM Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BPGM Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs121964925 Pathogenic: Deficiency of bisphosphoglycerate mutase. Erythrocytosis, familial, 8 (ECYT8) [MIM:222800] 134,661,775(+) C/Tp.Arg90Cys MISSENSE_VARIANT
rs751972865 Erythrocytosis, familial, 8 (ECYT8) [MIM:222800] p.Arg62Gln
rs786205092 Pathogenic: Deficiency of bisphosphoglycerate mutase 134,661,566(+) AC/A FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for BPGM Gene

Structural Variations from Database of Genomic Variants (DGV) for BPGM Gene

Variant ID Type Subtype PubMed ID
dgv3671n106 CNV deletion 24896259
esv2142865 CNV deletion 18987734
esv2541159 CNV deletion 19546169
esv2735181 CNV deletion 23290073
esv2761369 CNV loss 21179565
esv2762705 CNV loss 21179565
esv3182 CNV loss 18987735
esv3542464 CNV deletion 23714750
esv5725 CNV loss 19470904
nsv1154035 CNV deletion 26484159
nsv366336 CNV deletion 16902084
nsv472556 CNV novel sequence insertion 20440878
nsv5958 CNV insertion 18451855
nsv957590 CNV deletion 24416366

Variation tolerance for BPGM Gene

Residual Variation Intolerance Score: 42.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BPGM Gene

Human Gene Mutation Database (HGMD)
BPGM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPGM

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPGM Gene

Disorders for BPGM Gene

MalaCards: The human disease database

(4) MalaCards diseases for BPGM Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
erythrocytosis, familial, 8
  • ecyt8
hemolytic anemia
  • anemia hemolytic
acquired polycythemia
  • polycythemia, secondary
erythrocytosis, familial, 1
  • ecyt1
- elite association - COSMIC cancer census association via MalaCards
Search BPGM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PMGE_HUMAN
  • Erythrocytosis, familial, 8 (ECYT8) [MIM:222800]: An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly. {ECO:0000269 PubMed:1421379, ECO:0000269 PubMed:15054810, ECO:0000269 PubMed:2542247}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for BPGM Gene

erythrocytosis

Additional Disease Information for BPGM

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BPGM: view

Publications for BPGM Gene

  1. Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase. (PMID: 17052986) Wang Y … Gong W (The Journal of biological chemistry 2006) 3 4 23 54
  2. Crystal structure of human bisphosphoglycerate mutase. (PMID: 15258155) Wang Y … Gong W (The Journal of biological chemistry 2004) 3 4 23 54
  3. Human erythrocyte bisphosphoglycerate mutase: inactivation by glycation in vivo and in vitro. (PMID: 9832630) Fujita T … Taniguchi N (Journal of biochemistry 1998) 3 4 23 54
  4. Structural modeling of the human erythrocyte bisphosphoglycerate mutase. (PMID: 1387804) Craescu CT … Edelstein S (Biochimie 1992) 3 4 23 54
  5. Unliganded structure of human bisphosphoglycerate mutase reveals side-chain movements induced by ligand binding. (PMID: 21045285) Patterson A … Nairn J (Acta crystallographica. Section F, Structural biology and crystallization communications 2010) 3 4 54

ExternalLinks

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